Two Novel Mutations in Myosin Binding Protein C Slow Causing Distal Arthrogryposis Type 2 in Two Large Han Chinese Families May Suggest Important Functional Role of Immunoglobulin Domain C2

Distal arthrogryposes (DAs) are a group of disorders that mainly involve the distal parts of the limbs and at least ten different DAs have been described to date. DAs are mostly described as autosomal dominant disorders with variable expressivity and incomplete penetrance, but recently autosomal rec...

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Detalles Bibliográficos
Autores principales: Li, Xuefu, Zhong, Bomeng, Han, Weitian, Zhao, Ning, Liu, Wei, Sui, Yu, Wang, Yawen, Lu, Yongping, Wang, Hong, Li, Jianxin, Jiang, Miao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4332675/
https://www.ncbi.nlm.nih.gov/pubmed/25679999
http://dx.doi.org/10.1371/journal.pone.0117158

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4332675/
https://www.ncbi.nlm.nih.gov/pubmed/25679999
http://dx.doi.org/10.1371/journal.pone.0117158

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